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inborn disorder of lysosomal amino acid transport - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

inborn disorder of lysosomal amino acid transport

MONDO:0019246

Also known as:disorder of lysosomal amino acid transport

Overview

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for inborn disorder of lysosomal amino acid transport.

59 publications have been identified in PubMed for inborn disorder of lysosomal amino acid transport. Research spans Basic Science / Preclinical (76%), Review / Meta-Analysis (14%), and Case Report / Case Series (5%).

Research Type	Count	% of Total
Laboratory research	45	76%
Research summaries	8	14%
Patient case studies	3	5%
Clinical study results	1	2%
Disease patterns and progression	1

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:49 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79207

GARD

Genetic and Rare Diseases Info Center

GARD:18974

Questions for Your Care Team

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inborn disorder of lysosomal amino acid transport

Overview

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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